Marco Antonio Araujo Leite

Amyotrophic lateral sclerosis: new perpectives and update

Amyotrophic lateral sclerosis (ALS), Charcot’s disease or Lou Gehrig’s disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades – or even one decade – ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion.

Effects of using the Nintendo Wii Fit Plus Platform in the sensorimotor training of gait disorders in Parkinson’s disease

The use of the Nintendo Wii has been considered a good alternative in the motor rehabilitation of individuals with Parkinson’s disease (PD), requiring simultaneous interaction to develop strategies for physical, visual, auditory, cognitive, psychological and social activities in the performing of virtual activities, resulting in improvement in functional performance and gait. The aim of this study was to analyze the effect of virtual sensorimotor activity on gait disorders in people with PD. Fifteen subjects with a clinical diagnosis of PD were submitted to the Unified Parkinson’s Disease Rating Scale (UPDRS III), Schwab and England Activities of Daily Living Scale (SE), Functional Independence Measure (FIM), and biomechanical gait analysis using digital images taken with a video camera before and after the treatment program. The activities with the Nintendo Wii virtual platform were standardized into three categories: aerobics, balance and Wii plus exercises. Participants carried out separate virtual exercises for 40 min, twice a week, for a total of 14 sessions. The program improved sensorimotor performance in PD gait, with an increase in stride length and gait speed, in addition to a reduction in motor impairment, especially in items of rigidity and flexibility of the lower limbs evaluated by UPDRS III, and greater functional independence, as evidenced in the SE and FIM scales. Improvements in items related to locomotion and stair climbing were also observed. The training was effective in motor recovery in chronic neurodegenerative diseases, showing improvement in motor performance and functional independence in individuals with PD.

Botulinum Neurotoxin Type A in Neurology: Update

This paper reviews the current and most neurological (central nervous system, CNS) uses of the botulinum neurotoxin type A. The effect of these toxins at neuromuscular junction lends themselves to neurological diseases of muscle overactivity, particularly abnormalities of muscle control. There are seven serotypes of the toxin, each with a specific activity at the molecular level. Currently, serotypes A (in two preparations) and B are available for clinical purpose, and they have proved to be safe and effective for the treatment of dystonia, spasticity, headache, and other CNS disorders in which muscle hyperactivity gives rise to symptoms. Although initially thought to inhibit acetylcholine release only at the neuromuscular junction, botulinum toxins are now recognized to inhibit acetylcholine release at autonomic cholinergic nerve terminals, as well as peripheral release of neuro-transmitters involved in pain regulation. Its effects are transient and nondestructive, and largely limited to the area in which it is administered. These effects are also graded according to the dose, allowing individualized treatment of patients and disorders. It may also prove to be useful in the control of autonomic dysfunction and sialorrhea. In over 20 years of use in humans, botulinum toxin has accumulated a considerable safety record, and in many cases represents relief for thousands of patients unaided by other therapy.

Man-in-the-barrel syndrome, a symmetrical proximal brachial amyotrophic diplegia related to motor neuron diseases: a survey of nine cases

OBJECTIVE To report on 9 patients presenting with sporadic motor neuron disease , who over a long period of time evolved with a symmetrical proximal brachial amyotrophic diplegia. METHODS Nine patients were followed-up who , displayed, since onset, a progressive limitation of arm flexion/abduction resulting in a peculiar posture with both hands hanging loosely beside the trunk. Electrophysiological test results were consistent with lower motor neuron disease. Cervical MRI was performed in all patients. RESULTS Nine male subjects with ages ranging from 38 to 73 years at onset of symptoms, developed bilateral and symmetric paresis and atrophy of upper limb muscles. Proximal muscles were more involved than the distal groups. In most patients tendon reflexes were absent or hypoactive in the upper limbs. Needle electromyography (EMG) revealed positive sharp waves and fibrillations and high amplitude polyphasic potentials with an incomplete recruitment pattern in most upper limb muscles. EMG of lower limb muscles was normal in some cases while abnormal in others. MRC did not disclose cervical spinal cord abnormalities from C5-T1. CONCLUSION Attention is called to the Man-in-the-Barrel syndrome in some motor neuron diseases, especially in patients with progressive spinal atrophy and amyotrophic lateral sclerosis.

The Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT) : One-year follow-up of a single case

In this article, we report the case history of a 44-year-old female patient with bipolar disorder who developed the so-called Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT). A detailed description of our patients neurologic status is provided at baseline (i.e. during lithium intoxication) and after one year of follow-up, confirming the persistency of cerebellar signs and symptoms. Although rare, our report - which shows a severe and disabling form of SILENT - underscores the need to perform a strict control of the putative risk factors argued to be associated with the development of this syndrome. In our case, the presence of fever and the administration of multiple doses of antipsychotics may have contributed to the poor outcome exhibited by the patient.

Time perception mechanisms at central nervous system

The five senses have specific ways to receive environmental information and lead to central nervous system. The perception of time is the sum of stimuli associated with cognitive processes and environmental changes. Thus, the perception of time requires a complex neural mechanism and may be changed by emotional state, level of attention, memory and diseases. Despite this knowledge, the neural mechanisms of time perception are not yet fully understood. The objective is to relate the mechanisms involved the neurofunctional aspects, theories, executive functions and pathologies that contribute the understanding of temporal perception. Articles form 1980 to 2015 were searched by using the key themes: neuroanatomy, neurophysiology, theories, time cells, memory, schizophrenia, depression, attention-deficit hyperactivity disorder and Parkinson’s disease combined with the term perception of time. We evaluated 158 articles within the inclusion criteria for the purpose of the study. We conclude that research about the holdings of the frontal cortex, parietal, basal ganglia, cerebellum and hippocampus have provided advances in the understanding of the regions related to the perception of time. In neurological and psychiatric disorders, the understanding of time depends on the severity of the diseases and the type of tasks.

Motor Imagery and Its Effect on Complex Regional Pain Syndrome: An Integrative Review.

The motor imagery (MI) has been proposed as a treatment in the complex regional pain syndrome type 1 (CRPS-1), since it seems to promote a brain reorganization effect on sensory-motor areas of pain perception. The aim of this paper is to investigate, through an integrative critical review, the influence of MI on the CRPS-1, correlating their evidence to clinical practice. Research in PEDro, Medline, Bireme and Google Scholar databases was conducted. Nine randomized controlled trials (level 2), 1 non-controlled clinical study (level 3), 1 case study (level 4), 1 systematic review (level 1), 2 review articles and 1 comment (level 5) were found. We can conclude that MI has shown effect in reducing pain and functionality that remains after 6 months of treatment. However, the difference between the MI strategies for CRPS-1 is unknown as well as the intensity of mental stress influences the painful response or effect of MI or other peripheral neuropathies.

The influence of fear of falling on orthostatic postural control: a systematic review

Posture is a complex sensory-motor behavior that can be influenced by the fear of falling (FoF) during environmental changes. The aim of this paper is to investigate the influence of FoF on orthostatic postural control in healthy individuals by a systematic review. Thirteen articles were selected. Some other articles (31 references) were used to contextualize and discuss the topic. Studies in the environment made changes on the environment, in which participants were positioned in high hydraulic platforms at different heights, showed a decrease in the center of pressure in the anteroposterior oscillation where the platform was higher. This change in postural control strategy and the FoF are correlated. It can modulate the activity of the muscle spindle (H-reflex) and probably induce postural freezing phenomenon (anticipated postural anxiety). We can conclude that further studies are needed to understand the physiological echanisms involved in FoF and its relation to changes in postural control strategy.

Motor neuron disease and acquired axonal neuropathy association in HIV infection: case report and update.

BACKGROUND A possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis - Syndrome, Motor Neuron Diseases and peripheral neuropathies. OBJECTIVE To report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology. METHODS The patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies. RESULTS AND DISCUSSION The initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission. CONCLUSION Motor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

BACKGROUND Parkinsons disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. METHODS Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. RESULTS Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. CONCLUSION Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.